组蛋白去甲基酶UTX在发育和疾病中的作用

UTX(ubiquitously transcribed tetratricopeptide repeat,X chromosome)是抑制性组蛋白H3K27me3的特异性去甲基化酶,和甲基转移酶PRC2共同调控H3K27me3。此外,UTX也是组蛋白H3K4甲基转移酶MLL3/MLL4的组成部分。UTX参与胚胎发育、HOX基因的表达和重编程等生命过程。在歌舞伎综合征中,UTX突变是关键的致病因素。同时,UTX作为肿瘤抑制因子参与多种实体肿瘤和血液肿瘤的产生。该文总结了UTX在正常发育和疾病发生中的作用及近期研究的重大突破,并结合我们的研究探讨了UTX对体细胞重编程的影响。

Functions of Histone Demethylase UTX in Developments and Diseases

UTX(ubiquitously transcribed tetratricopeptide repeat,X chromosome)is a histone demethylase that targets tri-methyl groups on H3K27(lysine 27 of histone H3).UTX dynamically regulates the methylation of H3K27 together with specific methyltransferase PRC2.Furthermore,UTX is a member of MLL3/MLL4 H3K4 methyltransferase complex.UTX is indispensable for biological development,as it is needed for embryonic development,HOX gene expression and somatic cell reprogramming.Constitutional mutation of UTX has a strong relationship with Kabuki Syndrome,a special hereditary disorder.Meanwhile,UTX is identified as a tumor suppressor which regulates multiple human cancers.Here,we summarize the functions of UTX in developments and diseases with the current research progresses,and explore the effect of UTX in somatic cell reprogramming combined with our study.